3-142848361-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_013363.4(PCOLCE2):c.304C>T(p.Arg102Cys) variant causes a missense change. The variant allele was found at a frequency of 0.000216 in 1,614,020 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013363.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000243 AC: 37AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000139 AC: 35AN: 251442Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135902
GnomAD4 exome AF: 0.000213 AC: 312AN: 1461692Hom.: 0 Cov.: 32 AF XY: 0.000210 AC XY: 153AN XY: 727160
GnomAD4 genome AF: 0.000243 AC: 37AN: 152328Hom.: 0 Cov.: 33 AF XY: 0.000269 AC XY: 20AN XY: 74488
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.304C>T (p.R102C) alteration is located in exon 3 (coding exon 3) of the PCOLCE2 gene. This alteration results from a C to T substitution at nucleotide position 304, causing the arginine (R) at amino acid position 102 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at